Disease: AICARDI-GOUTIERES SYNDROME ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs138603088
rs138603088 		0.882 0.120 20 36930783 missense variant A/T snv 2.4E-05 2.1E-05
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.700 1.000 7 2009 2018
dbSNP: rs267607027
rs267607027 		0.925 0.120 20 36935048 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.020 0.500 2 2010 2011
dbSNP: rs121434516
rs121434516 		0.925 0.120 20 36930760 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017